Clinical and laboratory characteristics in congenital ANKRD26 mutation-associated thrombocytopenia: A detailed phenotypic study of a family

Juliana Perez Botero, Dong Chen, Rong He, David S. Viswanatha, Julie A. Majerus, Lea M. Coon, Phuong L. Nguyen, Karen K. Reichard, Jennifer Oliveira, Ayalew Tefferi, Naseema Gangat, Rajiv K. Pruthi, Mrinal M Patnaik

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

The clinical and laboratory characteristics of patients with non-syndromic, autosomal dominant thrombocytopenia secondary to germ line ANKRD26 mutations appear to be heterogeneous. Except for a targeted molecular genotyping approach, there is no distinct clinical or laboratory phenotype that has been specifically associated with this particular gene mutation. Such heterogeneity could be due to variations in mutation and genetic background in different families. To understand the phenotypic heterogeneity, we thoroughly studied one affected family using the International Society for Thrombosis and Haemostasis bleeding assessment tool and both clinically validated standard and esoteric platelet testing (electron microscopy (EM) and flow cytometry). We found that decreased platelet aggregation with arachidonic acid and epinephrine agonists was common in affected family members. EM studies demonstrated persistent borderline low mean dense granules per platelet, decreased alpha granules and an increased canalicular network pattern in all affected members. Since these characteristics are subtle or non-pathognomonic, molecular testing for ANKRD26 mutation remains the most reliable test to render a diagnosis and should be considered when evaluating a patient or family with congenital thrombocytopenia, particularly if there is a history of myeloid neoplasms.

Original languageEnglish (US)
Pages (from-to)1-4
Number of pages4
JournalPlatelets
DOIs
StateAccepted/In press - Apr 29 2016

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Thrombocytopenia
Mutation
Electron Microscopy
Blood Platelets
Germ-Line Mutation
Hemostasis
Platelet Aggregation
Arachidonic Acid
Epinephrine
Flow Cytometry
Thrombosis
Hemorrhage
Phenotype
Genes
Neoplasms

Keywords

  • ANKRD26 protein
  • blood platelet disorders
  • electron microscopy
  • flow cytometry
  • platelet aggregation
  • thrombocytopenia

ASJC Scopus subject areas

  • Hematology

Cite this

Clinical and laboratory characteristics in congenital ANKRD26 mutation-associated thrombocytopenia : A detailed phenotypic study of a family. / Botero, Juliana Perez; Chen, Dong; He, Rong; Viswanatha, David S.; Majerus, Julie A.; Coon, Lea M.; Nguyen, Phuong L.; Reichard, Karen K.; Oliveira, Jennifer; Tefferi, Ayalew; Gangat, Naseema; Pruthi, Rajiv K.; Patnaik, Mrinal M.

In: Platelets, 29.04.2016, p. 1-4.

Research output: Contribution to journalArticle

Botero, Juliana Perez ; Chen, Dong ; He, Rong ; Viswanatha, David S. ; Majerus, Julie A. ; Coon, Lea M. ; Nguyen, Phuong L. ; Reichard, Karen K. ; Oliveira, Jennifer ; Tefferi, Ayalew ; Gangat, Naseema ; Pruthi, Rajiv K. ; Patnaik, Mrinal M. / Clinical and laboratory characteristics in congenital ANKRD26 mutation-associated thrombocytopenia : A detailed phenotypic study of a family. In: Platelets. 2016 ; pp. 1-4.
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